Publication: A Focus on the Proximal Tubule Dysfunction in Dent Disease Type 1
A Focus on the Proximal Tubule Dysfunction in Dent Disease Type 1
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de Combiens, E., Sakhi, I. B., & Lourdel, S. (2024). A Focus on the Proximal Tubule Dysfunction in Dent Disease Type 1. Genes, 15(9), 1175. https://doi.org/10.3390/genes15091175
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Dent disease type 1 is a rare X-linked recessive inherited renal disorder affecting mainly young males, generally leading to end-stage renal failure and for which there is no cure. It is caused by inactivating mutations in the gene encoding ClC-5, a 2Cl$^{-}$/H$^{+}$ exchanger found on endosomes in the renal proximal tubule. This transporter participates in reabsorbing all filtered plasma proteins, which justifies why proteinuria is commonly observed when ClC-5 is defective. In the context of Dent disease type 1, a proximal tubule ded
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- de Combiens, Elise
- Sakhi, Imene Bouchra
- Lourdel, Stéphane
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de Combiens, E., Sakhi, I. B., & Lourdel, S. (2024). A Focus on the Proximal Tubule Dysfunction in Dent Disease Type 1. Genes, 15(9), 1175. https://doi.org/10.3390/genes15091175
